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Common Ataxia Telangiectasia Mutated Haplotypes And Risk Of Breast Cancer: A Nested Case–Control Study, Rulla Tamimi, Susan Hankinson, Donna Spiegelman, Peter Kraft, Graham Colditz, David Hunter
Common Ataxia Telangiectasia Mutated Haplotypes And Risk Of Breast Cancer: A Nested Case–Control Study, Rulla Tamimi, Susan Hankinson, Donna Spiegelman, Peter Kraft, Graham Colditz, David Hunter
Susan E. Hankinson
Introduction The ataxia telangiectasia mutated (ATM) gene is a tumor suppressor gene with functions in cell cycle arrest, apoptosis, and repair of DNA double-strand breaks. Based on family studies, women heterozygous for mutations in the ATM gene are reported to have a fourfold to fivefold increased risk of breast cancer compared with noncarriers of the mutations, although not all studies have confirmed this association. Haplotype analysis has been suggested as an efficient method for investigating the role of common variation in the ATM gene and breast cancer. Five biallelic haplotype tagging single nucleotide polymorphisms are estimated to capture 99% of …